Autoinflammatory keratinization disease with hepatitis and autism reveals roles for JAK1 kinase hyperactivity in autoinflammation.

Clinical observations reinforced by analysis of a knock-in mouse model confirm the crucial role of JAK1 in regulating physiological inflammatory processes. The present findings expand the phenotypic spectrum resulted from JAK1 hyperactivation and further underscore how gain-of-function JAK1 mutations contribute to multisystem autoinflammation. RNA sequencing was performed using extracted RNA from the brain, liver, and skin of newborn Jak1 knock in (KI) mice (Jak1H595D/+;I596I/+;Y597Y/+) and wild type (WT) mice . We performed a gene set enrichment analysis using the hallmark gene set database.